ClinVar Miner

Submissions for variant NC_000001.10:g.(?_68910194)_(68912563_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003111038 SCV003792161 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2023-05-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with RPE65-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 3-5 of the RPE65 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in RPE65 are known to be pathogenic (PMID: 9326941, 9501220, 9843205, 18632300).

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